ReviewFrontiers in endocrinology2017
Clinical, Genetic, and Protein Structural Aspects of Familial Dysalbuminemic Hyperthyroxinemia and Hypertriiodothyroninemia.
Review in Frontiers in endocrinology, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 21 papers.
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Who cites it
21 citing papers in PubMed, 39 citations in OpenAlex.
- Differential diagnosis of familial dysalbuminemic hyperthyroxinemia , RTH, and TSHomas: A single-center retrospective analysis.Endocrine · 2026Article
- Familial dysalbuminemic hyperthyroxinemia: 2 Indian cases with a novelJCEM case reports · 2026Article
- Coexistence of familial dysalbuminemic hyperthyroixinemia and papillary thyroid carcinoma: a rare case report and diagnostic challenge.Therapeutic advances in endocrinology and metabolism · 2025Article
- Incidental detection of hereditary bisalbuminemia in a patient with positive DAT coombs: A case-based review.Metabolism open · 2024Review
- Familial dysalbuminemic hyperthyroxinemia combined with Graves' disease: a rare case report.BMC endocrine disorders · 2023Article
- Central hyperthyroidism combined with Graves' disease: case series and review of the literature.European thyroid journal · 2023Review
- A Positive Newborn Screen for Congenital Hypothyroidism in a Clinically Euthyroid Neonate-Avoiding Unnecessary Treatment.International journal of neonatal screening · 2023Article
- Clinical characteristics of familial dysalbuminemic hyperthyroxinemia in Chinese patients and comparison of free thyroxine in three immunoassay methods.Frontiers in endocrinology · 2023Article
- Spurious Serum Hormone Immunoassay Results: Causes, Recognition, Management.TouchREVIEWS in endocrinology · 2022Review
- Variations in the Human Serum Albumin Gene: Molecular and Functional Aspects.International journal of molecular sciences · 2022Review
- Hormone Immunoassay Interference: A 2021 Update.Annals of laboratory medicine · 2022Review
- Physiological Role and Use of Thyroid Hormone Metabolites - Potential Utility in COVID-19 Patients.Frontiers in endocrinology · 2021Review
- Hyperthyroxinemia with a non-suppressed TSH: how to confidently reach a diagnosis in this clinical conundrum.Hormones (Athens, Greece) · 2020Review
- Familial Dysalbuminemic Hyperthyroxinemia: An Underdiagnosed Entity.Journal of clinical medicine · 2020Article
- Familial dysalbuminemic hyperthyroxinemia confounding management of coexistent autoimmune thyroid disease.Endocrinology, diabetes & metabolism case reports · 2020Article
- Clinical recognition and evaluation of patients with inherited serum thyroid hormone-binding protein mutations.Journal of endocrinological investigation · 2020Review
- Diagnosis, Phenotype, and Molecular Genetics of Congenital Analbuminemia.Frontiers in genetics · 2019Review
- A Chinese Family with Familial Dysalbuminemic Hyperthyroxinemia (FDH) due to R242H Mutation on Human Albumin Gene: Reevaluating the Role of FDH in Patients with Asymptomatic Hyperthyroxinemia.International journal of endocrinology · 2019Article
- Effect of Albumin Polymorphism on Thyroid Hormones: A Case Report and Literature Review.Cureus · 2018Article
- Homozygous Mutation in Human Serum Albumin and Its Implication on Thyroid Tests.Thyroid : official journal of the American Thyroid Association · 2018Article
Corrections and comments
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Authors and funding
3 authors at 2 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Familial dysalbuminemic hyperthyroxinemia (FDH-T4) and hypertriiodothyroninemia (FDH-T3) are dominantly inherited syndromes characterized by a high concentration of thyroid hormone in the blood stream. The syndromes do not cause disease, because the concentration of free hormone is normal, but affected individuals are at risk of erroneous treatment. FDH-T4 is the most common cause of euthyroid hyperthyroxinemia in Caucasian populations in which its prevalence is about 1 in 10,000 individuals, but the prevalence can be much higher in some ethnic groups. The condition is caused by a genetic variant of human serum albumin (HSA); Arg218 is mutated to histidine, proline, or serine or Arg222 is changed to isoleucine. The disorder is characterized by greater elevation in serum l-thyroxine (T4) than in serum triiodothyronine (T3); T4 can be increased by a factor 8-15. The high serum concentration of T4 is due to modification of a binding site located in the N-terminal half of HSA (in subdomain IIA). Thus, mutating Arg218 or Arg222 for a smaller amino acid reduces the steric restrictions in the site and creates a high-affinity binding site. The mutations can also affect binding of other ligands and can perhaps cause modified pharmacokinetics of albumin-binding drugs. In normal HSA, the high-affinity site has another location (in subdomain IIIB). Different locations of these sites imply that persons with and without FDH-T4 can have different types of interactions, and thereby complications, when given albumin-binding drugs. FDH-T3 is caused by a leucine to proline mutation in position 66 of HSA, which results in a large increment of the binding affinity for T3 but not for T4. For avoiding unwanted treatment of euthyroid persons with hyperthyroxinemia or hypertriiodothyroninemia, protein sequencing and/or sequencing of the albumin gene should be performed.
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